A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612992



Internal ID6999891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:43375794..43384782hg38UCSC Ensembl
Innerchr7:43375794..43384782hg38UCSC Ensembl
Outerchr7:43375294..43385282hg38UCSC Ensembl
chr7:43415393..43424381hg19UCSC Ensembl
Innerchr7:43415393..43424381hg19UCSC Ensembl
Outerchr7:43414893..43424881hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg388989
hg198989
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12756403, essv12756404
SamplesHG00233, NA07051
Known GenesHECW1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612992
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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